Canonical Allele Identifier: CA2587947850
Gene: MCOLN1 HGNC NCBI

Linked Data

gnomAD v4: 19-7526443-TC-T
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7526445del , CM000681.2:g.7526445del GRCh38
NC_000019.9:g.7591331del , CM000681.1:g.7591331del GRCh37
NC_000019.8:g.7497331del NCBI36
NG_015806.1:g.8836del

Transcript Alleles

HGVS Amino-acid change
ENST00000264079.11:c.244del MANE Select ENSP00000264079.5:p.Leu82CysfsTer10
ENST00000264079.10:c.244del ENSP00000264079.5:p.Leu82CysfsTer10
ENST00000394321.9:n.324del
ENST00000596008.1:n.206del
ENST00000598406.1:n.65del
ENST00000601003.1:c.244del ENSP00000469074.1:p.Leu82CysfsTer10
NM_020533.2:c.244del NP_065394.1:p.Leu82CysfsTer10
NM_020533.3:c.244del MANE Select NP_065394.1:p.Leu82CysfsTer10
Search 100 bp 5'
Search 100 bp 3'